Canonical Allele Identifier: CA2487417996

Gene: RYR2

Linked Data

• dbSNP Id: rs1679854889

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237627941del , CM000663.2:g.237627941del	GRCh38
NC_000001.10:g.237791241del , CM000663.1:g.237791241del	GRCh37
NC_000001.9:g.235857864del	NCBI36
NG_008799.2:g.590540del
NG_008799.3:g.590758del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.6301del	ENSP00000499659.2:p.Ala2101ProfsTer8
ENST00000659194.3:c.6301del	ENSP00000499653.3:p.Ala2101ProfsTer8
ENST00000660292.2:c.6301del	ENSP00000499787.2:p.Ala2101ProfsTer8
ENST00000366574.7:c.6301del MANE Select	ENSP00000355533.2:p.Ala2101ProfsTer8
ENST00000360064.7:c.6253del	ENSP00000353174.7:p.Ala2085ProfsTer8
ENST00000366574.6:c.6301del	ENSP00000355533.2:p.Ala2101ProfsTer8
NM_001035.2:c.6301del	NP_001026.2:p.Ala2101ProfsTer8
XM_006711802.2:c.6331del	XP_006711865.1:p.Ala2111ProfsTer8
XM_006711803.2:c.6328del	XP_006711866.1:p.Ala2110ProfsTer8
XM_006711804.2:c.6331del	XP_006711867.1:p.Ala2111ProfsTer8
XM_006711805.2:c.6301del	XP_006711868.1:p.Ala2101ProfsTer8
XM_006711806.2:c.6331del	XP_006711869.1:p.Ala2111ProfsTer8
XM_006711807.2:c.6331del	XP_006711870.1:p.Ala2111ProfsTer8
XM_006711808.2:c.6331del	XP_006711871.1:p.Ala2111ProfsTer8
XM_006711809.2:c.6331del	XP_006711872.1:p.Ala2111ProfsTer8
XM_006711810.2:c.6298del	XP_006711873.1:p.Ala2100ProfsTer8
XR_949152.1:n.6612del
XM_006711802.3:c.6331del	XP_006711865.1:p.Ala2111ProfsTer8
XM_006711803.3:c.6328del	XP_006711866.1:p.Ala2110ProfsTer8
XM_006711804.3:c.6331del	XP_006711867.1:p.Ala2111ProfsTer8
XM_006711805.3:c.6301del	XP_006711868.1:p.Ala2101ProfsTer8
XM_006711806.3:c.6331del	XP_006711869.1:p.Ala2111ProfsTer8
XM_006711807.3:c.6331del	XP_006711870.1:p.Ala2111ProfsTer8
XM_006711808.3:c.6331del	XP_006711871.1:p.Ala2111ProfsTer8
XM_006711810.3:c.6298del	XP_006711873.1:p.Ala2100ProfsTer8
XM_017002028.1:c.6310del	XP_016857517.1:p.Ala2104ProfsTer8
XR_002957299.1:n.6645del
XR_949152.2:n.6645del
NM_001035.3:c.6301del MANE Select	NP_001026.2:p.Ala2101ProfsTer8